Abstract
PostiĹženĂ aorty pĹedstavujĂ vĂ˝znamnou souÄĂĄst spektra kardiovaskulĂĄrnĂch onemocnÄnĂ. Mutace ACTA2 je hlavnĂ pĹĂÄinou familiĂĄrnĂho vzniku aneurysmat a disekce hrudnĂ aorty, kterĂŠ se projevujĂ dilatacĂ nebo disekcĂ hrudnĂ aorty jedincĹŻ bez systĂŠmovĂŠ poruchy pojivovĂŠ tkĂĄnÄ nebo pĹĂsluĹĄnĂ˝ch syndromĹŻ. Gen ACTA2 kĂłduje aktin, konkrĂŠtnÄ α-aktin hladkĂŠho svalu, jenĹž je izoformou aktinu v hladkĂ˝ch svalech cĂŠv. UvedenĂĄ mutace vede ke vzniku Ĺady postiĹženĂ aorty, ale souÄasnÄ i k multisystĂŠmovĂŠ dysfunkci hladkĂŠho svalu. Popisujeme pĹĂpad pacienta s typickĂ˝mi klinickĂ˝mi nĂĄlezy odpovĂdajĂcĂmi mutaci ACTA2 a vĂ˝sledek lĂŠÄby po endovaskulĂĄrnĂm a nĂĄslednĂŠm chirurgickĂŠm vĂ˝konu. Projevy a rozvoj klinickĂ˝ch symptomĹŻ u naĹĄeho pacienta pĹesnÄ odpovĂdajĂ popisu onemocnÄnĂ v literatuĹe. © 2022, ÄKS.
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